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An analysis of PubMed literature from 2005 to July 2024 screened 768 articles and retained 150 for review. Results summarize 20 familial breast cancer–associated genes grouped by penetrance and identify 10 linked genetic disorders. Recommendations emphasize genetic disorder screening, refined assessment of candidate variations and risk loci, and note that clinical guidelines exist mainly for high- and moderate-risk variants.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/understanding-genetic-variations-associated-with-familial-breast-cancer/338286/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/understanding-genetic-variations-associated-with-familial-breast-cancer/338286.png","ImageObject",300,407,{"name":92,"@type":93},"Rowan","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-30","2026-09-21",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What proportion of breast cancers are inherited in familial risk groups, and which genes are most frequent?","Question",{"text":113,"@type":114},"Statistics cited indicate that 15–25% of breast cancers are inherited among people with cancer-prone relatives, with BRCA1, BRCA2, TP53, CDH1, PTEN, and STK11 noted as frequent genes for familial breast cancer.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How was the literature for the review conducted, and what was the final number of included articles?",{"text":118,"@type":114},"A PubMed search covering 2005 through July 2024 identified 768 articles, and 150 were included after exclusion criteria were applied.",{"name":120,"@type":111,"acceptedAnswer":121},"How are familial breast cancer–associated genes and disorders summarized in the review?",{"text":122,"@type":114},"The review reports 20 familial breast cancer–associated genes categorized into high-, moderate-, and low-penetrance levels, and it also links 10 genetic disorders with familial breast cancer.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},338286,1790818354,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":140,"language":141,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":142,"faqs":143,"seo_title":144,"seo_description":67,"update_tm":145,"read_time":146},1099514067415,"https://ap-avatar.wpscdn.com/avatar/100002539d78ffe74a7?x-image-process=image/resize,m_fixed,w_180,h_180&k=1779092875211072502","Pal etal. World Journal of Surgical Oncology (2024) 22:271  \n[https://doi.org/10.1186/s12957-024-03553-9](https://doi.org/10.1186/s12957-024-03553-9)  \nWorld Journal of Surgical Oncology  \nREVIEW Open Access  \nUnderstanding genetic variations associated with familial breast cancer  \nManjusha Pal 1, Doutrina Das 1 and Manoj Pandey 1*  \nAbstract  \nBackground Breast cancer is the most frequent cancer among women. Genetics are the main risk factor for breast cancer. Statistics show that 15–25% of breast cancers are inherited among those with cancer-prone relatives. BRCA1, BRCA2, TP53, CDH1, PTEN, and STK11 are the most frequent genes for familial breast cancer, which occurs 80% of the time. In rare situations, moderate-penetrance gene mutations such CHEK2, BRIP1, ATM, and PALB2 contribute 2–3% . Methods A search of the PubMed database was carried out spanning from 2005 to July 2024, yielding a total of 768 articles that delve into the realm of familial breast cancer, concerning genes and genetic syndromes. After exclusion 150 articles were included in the final review.  \nResults We report on a set of 20 familial breast cancer-associated genes into high, moderate, and low penetrance levels. Additionally, 10 genetic disorders were found to be linked with familial breast cancer.  \nConclusion Familial breast cancer has been linked to several genetic diseases and mutations, according to studies. Screening for genetic disorders is recommended by National Comprehensive Cancer Network recommendations. Evaluation of breast cancer candidate variations and risk loci may improve individual risk assessment. Only high-and moderate-risk gene variations have clinical guidelines, whereas low-risk gene variants require additional investigation. With increasing use of NGS technology, more linkage with rare genes is being discovered.  \nKeywords Breast cancer, Familial breast cancer, BRCA, ATM, TOX3  \nBackground  \nBreast cancer (BC) is the most common cancer among women. GLOBOCAN 2022 Statistics reveal that 2,296, 840 new cases of BC were identified globally, making it the fourth leading cause of cancer mortality [1]. Hereditary and environmental factors, including cell-cycle gene alterations, cause cancer. The abnormalities maybe inherited, induced by carcinogens, age, hormonal variables, reproductive history, menstrual cycle, alcohol,  \n*Correspondence:  \nManoj Pandey  \n[manojpandey@wjso.com](manojpandey@wjso.com)  \n1Department of Surgical Oncology, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005, India  \nradiation, and genetic susceptibility [2–5].BC classification considers treatment and prognostic factors, such as histopathological type, grade, stage, receptor status, and gene expression/mutation, as clinical and histopathologic factors (tumour size, lymph node involvement, metastasis) as histology alone fails to precisely predict tumour behaviour [6]. Extensive gene and protein expression profiling has identified four clinically significant molecular subtypes of BC [7]. Modern molecular pathology sought an explanation for BC heterogeneity using high-throughput biomarker screening. It offers biomarkers—ER (estrogen receptor), PR (progesterone receptor), and HER2 (human epidermal growth factor receptor 2)—that classify BC into five subtypes (Fig. 1): luminal A and B, HER2 enriched, triple-negative or basal-like  \n© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons lic","cbCaioVKsXB3H9Cv","https://ap.wps.com/l/cbCaioVKsXB3H9Cv","pdf",2980569,15,"English","# Abstract\n## Background\n## Methods\n## Results\n## Conclusion\n# Breast cancer context and classification","[{\"question\":\"What proportion of breast cancers are inherited in familial risk groups, and which genes are most frequent?\",\"answer\":\"Statistics cited indicate that 15–25% of breast cancers are inherited among people with cancer-prone relatives, with BRCA1, BRCA2, TP53, CDH1, PTEN, and STK11 noted as frequent genes for familial breast cancer.\"},{\"question\":\"How was the literature for the review conducted, and what was the final number of included articles?\",\"answer\":\"A PubMed search covering 2005 through July 2024 identified 768 articles, and 150 were included after exclusion criteria were applied.\"},{\"question\":\"How are familial breast cancer–associated genes and disorders summarized in the review?\",\"answer\":\"The review reports 20 familial breast cancer–associated genes categorized into high-, moderate-, and low-penetrance levels, and it also links 10 genetic disorders with familial breast cancer.\"}]","Understanding genetic variations associated with familial breast cancer | PDF",1790022922,38]